progressive myoclonus epilepsy

Summary
Synonym
  • PME
  • progressive myoclonic epilepsy
Definition
A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death.
Super Class
variable age at onset electroclinical syndrome
Disease Ontology
DOID:891
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
7957 EPM2A EPM2A glucan phosphatase, laforin
10501 SEMA6B semaphorin 6B
Displaying 1 entry
Gene ID Gene Symbol Description Source
12492 Scarb2 scavenger receptor class B, member 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9H3T3 Semaphorin-6B
Displaying 1 entry
UniProt ID Protein Name Source
O35114 Lysosome membrane protein 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 4, 2025